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Article

Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.

Journal of medical genetics - 1 Dec 1997

Seller M J, Behnam J T, Lewis C M, Johnston R L, Burdon M A, Spalton D J

Abstract excerpt

Dominant optic atrophy, Kjer type, is an autosomal dominant disorder causing progressive loss of visual acuity and colour vision from early childhood. The gene (OPA1) has variable expressivity, a penetrance of 0.98, and the locus has been localised to 3q28-29. We have genotyped nine British families with the disease using 12 polymorphic microsatellite markers from this region. Linkage and haplotype analysis shows...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9429135
DOI: 10.1136/jmg.34.12.967
PMCID: PMC1051144

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.PMID 9429135Read ↗

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.Semantic proximity Read ↗

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Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28.Semantic proximity Read ↗

[Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)].Semantic proximity Read ↗

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)Semantic proximity Read ↗

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.Semantic proximity Read ↗

A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype.Semantic proximity Read ↗

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Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.Semantic proximity Read ↗

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